MCID: OTS012
MIFTS: 14

Otosclerosis 10

Categories: Ear diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Otosclerosis 10

MalaCards integrated aliases for Otosclerosis 10:

Name: Otosclerosis 10 57 73
Otsc10 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 1 family (last curated january 2014)


HPO:

32
otosclerosis 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615589
MedGen 42 C3888339
SNOMED-CT via HPO 69 263681008 11543004
UMLS 73 C3888339

Summaries for Otosclerosis 10

OMIM : 57 Otosclerosis is a hearing disorder that is associated with disordered bone remodeling in the otic capsule. The bone remodeling can result in conductive, mixed, or sensorineural hearing loss as a result of stapes footplate fixation or cochlear involvement (summary by Schrauwen et al., 2011). (615589)

MalaCards based summary : Otosclerosis 10, also known as otsc10, is related to otosclerosis. An important gene associated with Otosclerosis 10 is OTSC10 (Otosclerosis 10). Affiliated tissues include bone, and related phenotype is otosclerosis.

Related Diseases for Otosclerosis 10

Diseases in the Otosclerosis family:

Otosclerosis 1 Otosclerosis 2
Otosclerosis 3 Otosclerosis 5
Otosclerosis 4 Otosclerosis 7
Otosclerosis 8 Otosclerosis 10
Otosclerosis, Familial

Diseases related to Otosclerosis 10 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 otosclerosis 9.8

Symptoms & Phenotypes for Otosclerosis 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss, conductive or mixed
absent stapedial reflexes or intraoperative stapes immobility
air-bone gap of greater than 20 db across 0.5 to 2 khz


Clinical features from OMIM:

615589

Human phenotypes related to Otosclerosis 10:

32
# Description HPO Frequency HPO Source Accession
1 otosclerosis 32 HP:0000362

Drugs & Therapeutics for Otosclerosis 10

Search Clinical Trials , NIH Clinical Center for Otosclerosis 10

Genetic Tests for Otosclerosis 10

Anatomical Context for Otosclerosis 10

MalaCards organs/tissues related to Otosclerosis 10:

41
Bone

Publications for Otosclerosis 10

Articles related to Otosclerosis 10:

# Title Authors Year
1
Hearing levels of patients with otosclerosis 10 years after stapedectomy. ( 8464638 )
1993

Variations for Otosclerosis 10

Expression for Otosclerosis 10

Search GEO for disease gene expression data for Otosclerosis 10.

Pathways for Otosclerosis 10

GO Terms for Otosclerosis 10

Sources for Otosclerosis 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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